Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.three Okay27M mutation: uncommon molecular profile and its therapeutic implications.
Mind Tumor Pathol. 2018 Jul 20;:
Authors: Nambirajan A, Suri V, Kedia S, Goyal Okay, Malgulwar PB, Khanna G, Panda PK, Gulati S, Garg A, Sharma MC
Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a newly launched tumor entity of unsure prognosis characterised by a major diffuse leptomeningeal progress sample, oligodendroglial-like morphology and twin glial/neuronal differentiation. Predominantly occurring in youngsters, these tumors current as continual meningitis and mimic infectious/inflammatory illnesses. They’re surgically difficult tumors with a excessive incidence of delayed morbidity and mortality regardless of low-grade histology. Their molecular genetic profile will not be totally elucidated and few reviews have recognized chromosome 1p and 19q deletions, and BRAF alterations. We current a uncommon occasion of a DL-GNT in a 13-year-old feminine who offered with slowly progressive and sequential neurological deficits over a 12-month period. Imaging confirmed leptomeningeal thickening and spinal lesions. Biopsy from the spinal mass confirmed histomorphological options attribute of DL-GNT. Additional molecular evaluation revealed 1p and 19q co-deletion and H3K27M mutation, whereas no mutation had been recognized in IDH, TERT, or BRAF genes. Affected person died four months after prognosis. Just one earlier case of DL-GNT has been reported to harbour H3K27M mutation. Though H3K27M mutations have been described in uncommon examples of low-grade glial and glioneuronal tumors, whether or not DL-GNTs with H3K27M characterize a uncommon progress sample of the aggressive H3K27M-mutant diffuse midline gliomas wants additional clarification.
PMID: 30030640 [PubMed – as supplied by publisher]